Canonical Allele Identifier: CA7831219

Gene: PKD1 MIR6511B1

Linked Data

• dbSNP Id: rs754040914
• ExAC: 16:2156682 C / G
• gnomAD v2: 16-2156682-C-G
• gnomAD v3: 16-2106681-C-G
• gnomAD v4: 16-2106681-C-G
• MyVariant Identifiers: chr16:g.2156682C>G (hg19) ; chr16:g.2106681C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106681C>G , CM000678.2:g.2106681C>G	GRCh38
NC_000016.9:g.2156682C>G , CM000678.1:g.2156682C>G	GRCh37
NC_000016.8:g.2096683C>G	NCBI36
NG_008617.1:g.34218G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7210-4G>C (PKD1) MANE Select	ENSP00000262304.4:n.7210-4G>C
ENST00000262304.8:c.7210-4G>C (PKD1)	ENSP00000262304.4:n.7210-4G>C
ENST00000415938.7:n.455-4G>C (PKD1)
ENST00000423118.5:c.7210-4G>C (PKD1)	ENSP00000399501.1:n.7210-4G>C
ENST00000483024.1:c.378-4G>C (PKD1)
ENST00000483558.5:n.269-4G>C (PKD1)
ENST00000483731.5:n.935-4G>C (PKD1)
ENST00000486339.6:n.956-4G>C (PKD1)
ENST00000487932.5:c.1897-4G>C (PKD1)	ENSP00000457132.1:n.1897-4G>C
ENST00000496574.6:n.1213-4G>C (PKD1)
ENST00000565639.6:n.918-4G>C (PKD1)
ENST00000568591.5:c.2371-4G>C (PKD1)	ENSP00000457162.1:n.2371-4G>C
ENST00000569983.5:n.566-4G>C (PKD1)
NM_000296.3:c.7210-4G>C (PKD1)	NP_000287.3:n.7210-4G>C
NM_001009944.2:c.7210-4G>C (PKD1)	NP_001009944.2:n.7210-4G>C
NR_106775.1:n.73G>C (MIR6511B1)
XM_005255370.2:c.4165-4G>C (PKD1)	XP_005255427.1:n.4165-4G>C
XM_011522525.1:c.7288-4G>C (PKD1)	XP_011520827.1:n.7288-4G>C
XM_011522526.1:c.7288-4G>C (PKD1)	XP_011520828.1:n.7288-4G>C
XM_011522527.1:c.7288-4G>C (PKD1)	XP_011520829.1:n.7288-4G>C
XM_011522528.1:c.7264-4G>C (PKD1)	XP_011520830.1:n.7264-4G>C
XM_011522529.1:c.7264-4G>C (PKD1)	XP_011520831.1:n.7264-4G>C
XM_011522530.1:c.7234-4G>C (PKD1)	XP_011520832.1:n.7234-4G>C
XM_011522531.1:c.7216-4G>C (PKD1)	XP_011520833.1:n.7216-4G>C
XM_011522532.1:c.7162-4G>C (PKD1)	XP_011520834.1:n.7162-4G>C
XM_011522533.1:c.7081-4G>C (PKD1)	XP_011520835.1:n.7081-4G>C
XM_011522534.1:c.7024-4G>C (PKD1)	XP_011520836.1:n.7024-4G>C
XM_011522535.1:c.5110-4G>C (PKD1)	XP_011520837.1:n.5110-4G>C
XM_011522536.1:c.7288-4G>C (PKD1)	XP_011520838.1:n.7288-4G>C
XM_011522537.1:c.4288-4G>C (PKD1)	XP_011520839.1:n.4288-4G>C
XR_932867.1:n.7303-4G>C (PKD1)
XR_932868.1:n.7303-4G>C (PKD1)
XR_932869.1:n.7303-4G>C (PKD1)
XR_932870.1:n.7303-4G>C (PKD1)
XM_005255370.3:c.4165-4G>C (PKD1)	XP_005255427.1:n.4165-4G>C
XM_011522528.3:c.7264-4G>C (PKD1)	XP_011520830.1:n.7264-4G>C
XM_011522529.2:c.7264-4G>C (PKD1)	XP_011520831.1:n.7264-4G>C
XM_011522537.2:c.4288-4G>C (PKD1)	XP_011520839.1:n.4288-4G>C
XM_024450298.1:c.7330-4G>C (PKD1)	XP_024306066.1:n.7330-4G>C
XM_024450299.1:c.7258-4G>C (PKD1)	XP_024306067.1:n.7258-4G>C
XM_024450300.1:c.7120-4G>C (PKD1)	XP_024306068.1:n.7120-4G>C
XM_024450301.1:c.5206-4G>C (PKD1)	XP_024306069.1:n.5206-4G>C
NM_000296.4:c.7210-4G>C (PKD1)	NP_000287.4:n.7210-4G>C
NM_001009944.3:c.7210-4G>C (PKD1) MANE Select	NP_001009944.3:n.7210-4G>C